Li Huajin, Li Hui, Yang Lizhu, Sun Zixi, Wu Shijing, Sui Ruifang
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing, China.
Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University , Fuzhou, China.
Ophthalmic Genet. 2020 Oct;41(5):432-439. doi: 10.1080/13816810.2020.1786843. Epub 2020 Jul 6.
Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants.
Four affected individuals were involved in this study. Three of them underwent detailed ophthalmic examinations, including best-corrected visual acuity (BCVA), dilated ophthalmoscopy, optical coherence tomography (OCT), visual field testing, and electroretinograms (ERG). The DNA sample of the proband was sequenced using our customized capture panel, which includes 338 retinal disease genes. Sanger sequencing was performed for validation and segregation.
Affected subjects manifested typical WVR features, including an optically empty vitreous with vitreoretinal membranes and veils, chorioretinal atrophy, and presenile cataracts. One patient was complicated with retinal detachment. BCVA ranged from light perception to 20/33. Reduced retinal thickness, loss, or discontinuation of ellipsoid and interdigitation zone were shown by OCT. Visual field testing displayed various degrees of peripheral vision loss. ERG recorded moderate to severe decline of both rod and cone responses. Next generation sequencing (NGS) combined with segregation test revealed two splice-site pathogenic variants (c.9265 + 2 T > A and c.4004-1 G > T) in gene.
Clinical manifestations are highly variable among WVR patients. Retinal detachment is common in WVR and the most vision-threatening complication. Next generation sequencing is a useful tool in precise diagnosis of this spectrum of diseases with highly heterogeneous or overlapped phenotypes.
瓦格纳玻璃体视网膜病变（WVR）是一种罕见的非综合征性常染色体显性遗传性玻璃体视网膜病变。我们研究了两个患有WVR的中国家系的表型，并确定了致病变异。
本研究纳入了4名受累个体。其中3人接受了详细的眼科检查，包括最佳矫正视力（BCVA）、散瞳眼底检查、光学相干断层扫描（OCT）、视野检查和视网膜电图（ERG）。先证者的DNA样本使用我们定制的捕获面板进行测序，该面板包含338个视网膜疾病基因。进行桑格测序以进行验证和分离分析。
受累受试者表现出典型的WVR特征，包括玻璃体光学空虚伴玻璃体视网膜膜和条索、脉络膜视网膜萎缩和早发性白内障。1例患者并发视网膜脱离。BCVA范围从光感至20/33。OCT显示视网膜厚度降低、椭圆体带和指状交叉带缺失或中断。视野检查显示不同程度的周边视野丧失。ERG记录到视杆和视锥反应中度至重度下降。二代测序（NGS）结合分离分析在 基因中发现了两个剪接位点致病变异（c.9265 +2 T>A和c.4004-1 G>T）。
WVR患者的临床表现高度可变。视网膜脱离在WVR中很常见，是最具视力威胁的并发症。二代测序是精确诊断这种具有高度异质性或重叠表型疾病谱的有用工具。
